Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography–Based Protocol : New Guidelines and a Proposal for Routine Diagnosis

Autor: Bilan, Frédéric, Legendre, Marine, Charraud, Valérie, Manière, Barbara, Couet, Dominique, Gilbert-Dussardier, Brigitte, Kitzis, Alain
Zdroj: In The Journal of Molecular Diagnostics 2012 14(1):46-55
Databáze: ScienceDirect